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NM_001035.3(RYR2):c.8209-3A>G

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(4);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
6 (Most recent: Jan 7, 2021)
Last evaluated:
Nov 13, 2020
Accession:
VCV000043829.9
Variation ID:
43829
Description:
single nucleotide variant
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NM_001035.3(RYR2):c.8209-3A>G

Allele ID
52998
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q43
Genomic location
1: 237659982 (GRCh38) GRCh38 UCSC
1: 237823282 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.237823282A>G
NC_000001.11:g.237659982A>G
NM_001035.3:c.8209-3A>G MANE Select
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000001.11:237659981:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.00080 (G)

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00034
The Genome Aggregation Database (gnomAD) 0.00051
The Genome Aggregation Database (gnomAD), exomes 0.00009
1000 Genomes Project 0.00080
Trans-Omics for Precision Medicine (TOPMed) 0.00049
Exome Aggregation Consortium (ExAC) 0.00018
Links
ClinGen: CA010885
dbSNP: rs376788358
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Apr 3, 2019 RCV000621356.1
Likely benign 1 criteria provided, single submitter Nov 13, 2020 RCV000866921.3
Likely benign 1 criteria provided, single submitter Sep 23, 2019 RCV001175859.1
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Sep 24, 2019 RCV000036795.4
Uncertain significance 1 no assertion criteria provided Oct 1, 2015 RCV000678751.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
RYR2 No evidence available No evidence available GRCh38
GRCh37
4306 4369

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Mar 09, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000235153.11
Submitted: (Jul 13, 2017)
Evidence details
Comment:
The c.8209-3 A>G variant in the RYR2 gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. In … (more)
Likely benign
(Sep 23, 2019)
criteria provided, single submitter
Method: clinical testing
Cardiomyopathy
Allele origin: germline
Color Health, Inc
Accession: SCV001339638.1
Submitted: (May 19, 2020)
Evidence details
Likely benign
(Sep 24, 2019)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000060450.7
Submitted: (Jun 03, 2020)
Evidence details
Comment:
The c.8209-3G>A variant in RYR2 is classified as likely benign because it has been identified in 0.15% (34/21760) of African chromosomes by gnomAD (http://gnomad.broadinstitute.org). This … (more)
Likely benign
(Apr 03, 2019)
criteria provided, single submitter
Method: clinical testing
Cardiovascular phenotype
Allele origin: germline
Ambry Genetics
Accession: SCV000736332.3
Submitted: (Nov 30, 2020)
Evidence details
Comment:
Subpopulation frequency in support of benign classification
Likely benign
(Nov 13, 2020)
criteria provided, single submitter
Method: clinical testing
Catecholaminergic polymorphic ventricular tachycardia
Allele origin: germline
Invitae
Accession: SCV001008090.3
Submitted: (Jan 07, 2021)
Evidence details
Uncertain significance
(Oct 01, 2015)
no assertion criteria provided
Method: clinical testing
Dilated cardiomyopathy with left ventricular noncompaction
Allele origin: germline
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital
Accession: SCV000804927.1
Submitted: (Jul 17, 2018)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs376788358...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Jul 07, 2021